K6R (p.Lys6Arg) variant of BRCA2 (P51587)
K6R (p.Lys6Arg) in BRCA2 (P51587) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs80359298
- gnomAD 13-32316475-CAA-C
- Frameshift
- CADD 27.70
- Most common in the South Asian population (allele frequency 0.00044)
- Cited in: The breast cancer information core: database design, structure, and scope. (PMID 10923033)